MutPred Splice statistics

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MutPred Splice specifications

Information


Unique identifier OMICS_02257
Name MutPred Splice
Interface Web user interface
Restrictions to use None
Input format VCF
Computer skills Basic
Version 1.3.2
Stability Stable
Maintained Yes

Maintainer


  • person_outline Matthew Mort <>

Publication for MutPred Splice

MutPred Splice in publications

 (7)
PMCID: 5793168
PMID: 29300302
DOI: 10.3390/genes9010015

[…] such as eses and esss, and determine the putative effect of mutations on splicing regulatory motifs, we used esefinder 3.0 [], rescue-ese [], and fas-ess []. additionally, we used two new tools, mutpred splice v1.3.2 [] and splicing-based analysis of variants (spanr) [] to identify exonic mutations possibly affecting pre-mrna splicing and to determine whether mutations can cause splicing […]

PMCID: 5660177
PMID: 29079855
DOI: 10.1038/s41598-017-14543-1

[…] we predicted the effect of somatic mutations on alternative splicing to test whether a major codon transition is associated with a splice aberration event. for each mutation in a given pathset, mutpred splice version 1.3.2 with default options was used to calculate a probabilistic score for a splicing aberration and was then classified into splicing altering variants (savs) or splice […]

PMCID: 4927100
PMID: 27355326
DOI: 10.1371/journal.pone.0158467

[…] detect possible changes within transcription factor binding sites []. a threshold cutoff score of ≥ 75% was used. in addition, cryptic splice site prediction for synonymous snvs was performed using mutpred splice (http://mutdb.org/mutpredsplice/submit.htm) and netgene2 (http://www.cbs.dtu.dk/services/netgene2) [, ]., transcript levels of ovol2, ccm2l and thbd in the corneal endothelium […]

PMCID: 4911149
PMID: 27309958
DOI: 10.1371/journal.pone.0157418

[…] sift and panther were used to predict the functional impact of segregating missense variants that met the filtering criteria.[–] in addition, splice site prediction programs, netgene2 and mutpred splice, were used to predict if synonymous substitutions created a cryptic splice donor site.[, ], examination of younger affected individuals revealed clear corneas, with the diagnosis made […]

PMCID: 4696816
PMID: 26716871
DOI: 10.1371/journal.pone.0145967

[…] 2 [], phd-snp [], snap [] and mutationtaster []. the effect of an observed nucleotide change which was located at the splice site was assessed using two tools, namely human splice finder [] and mutpred splice []., an observed mutation c.1084g>a was evaluated for splicing defect using minigene construct pcas2 [, ]. ugt1a1 exon 3 including 162 bp and 190 bp of the preceding 5’- […]


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MutPred Splice institution(s)
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK; Buck Institute for Research on Aging, Novato, CA, USA; Department of Computer Science and Informatics, Indiana University, Bloomington, IN, USA; Department of Molecular, Cellular and Developmental Biology, University of California Santa Cruz, Santa Cruz, CA, USA; Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA

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